Canonical Allele Identifier: CA3242506
Gene: LIFR HGNC NCBI

Linked Data

ClinVar Variation Id: 2324153
ClinVar RCV Id: RCV002911429
dbSNP Id: rs772164575
gnomAD v2: 5-38481896-G-T
gnomAD v4: 5-38481794-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38481794G>T , CM000667.2:g.38481794G>T GRCh38
NC_000005.9:g.38481896G>T , CM000667.1:g.38481896G>T GRCh37
NC_000005.8:g.38517653G>T NCBI36
NG_011817.1:g.118612C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000453190.7:c.3095C>A MANE Select ENSP00000398368.2:p.Ala1032Asp
ENST00000263409.8:c.3095C>A ENSP00000263409.4:p.Ala1032Asp
ENST00000453190.6:c.3095C>A ENSP00000398368.2:p.Ala1032Asp
NM_001127671.1:c.3095C>A NP_001121143.1:p.Ala1032Asp
NM_002310.5:c.3095C>A NP_002301.1:p.Ala1032Asp
XM_011514040.1:c.3095C>A XP_011512342.1:p.Ala1032Asp
XM_011514041.1:c.3095C>A XP_011512343.1:p.Ala1032Asp
XM_011514042.1:c.3095C>A XP_011512344.1:p.Ala1032Asp
NM_001364297.1:c.3095C>A NP_001351226.1:p.Ala1032Asp
NM_001364298.1:c.3062C>A NP_001351227.1:p.Ala1021Asp
XM_011514042.3:c.3095C>A XP_011512344.1:p.Ala1032Asp
XM_017009462.1:c.3149C>A XP_016864951.1:p.Ala1050Asp
XM_017009463.1:c.3095C>A XP_016864952.1:p.Ala1032Asp
NM_001127671.2:c.3095C>A MANE Select NP_001121143.1:p.Ala1032Asp
NM_002310.6:c.3095C>A NP_002301.1:p.Ala1032Asp
NM_001364297.2:c.3095C>A NP_001351226.1:p.Ala1032Asp
NM_001364298.2:c.3062C>A NP_001351227.1:p.Ala1021Asp